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Recommendations for...
Recommendations for Improving the Quality of Rare Disease Registries
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- Kodra, Yllka (author)
- Ist Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy
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- Weinbach, Jerome (author)
- Hop Trousseau, INSERM, RaDiCo,French Natl Programme Rare Dis Cohorts, Natl Inst Hlth & Med Res,UMR S933, F-75018 Paris, France
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- Posada-de-la-Paz, Manuel (author)
- RDR, ISCIII, Inst Rare Dis Res, Madrid 28029, Spain;CIBERER, Madrid 28029, Spain
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- Coi, Alessio (author)
- CNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy
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- Lemonnier, S. Lydie (author)
- RD Connect & Vaincre Mucoviscidose French Cyst Fi, Patient Advisory Council, F-75013 Paris, France
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- van Enckevort, David (author)
- Univ Groningen, UMCG, Dept Genet, NL-9700 RB Groningen, Netherlands
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- Roos, Marco (author)
- Leiden Univ, Med Ctr, NL-2333 ZA Leiden, Netherlands
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- Jacobsen, Annika (author)
- Leiden Univ, Med Ctr, NL-2333 ZA Leiden, Netherlands
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- Cornet, Ronald (author)
- Univ Amsterdam, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Med Informat, NL-1105 AZ Amsterdam, Netherlands
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- Ahmed, S. Faisal (author)
- Univ Glasgow, Royal Hosp Children, Off Rare Condit, Glasgow G51 4TF, Lanark, Scotland
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- Bros-Facer, Virginie (author)
- Patient Advisory Council RD Connect & EURORDIS Ra, F-75014 Paris, France
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- Popa, Veronica (author)
- RD Connect & MCT8 AHDS Fdn, Patient Advisory Council, Oklahoma City, OK 74464 USA
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- Van Meel, Marieke (author)
- RD Connect & NephcEurope Fdn, Patient Advisory Council, NL-2411 DW Bodegraven, Netherlands
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- Renault, Daniel (author)
- Patient Advisory Council RD Connect, B-1200 Brussels, Belgium;FEDERG, B-1200 Brussels, Belgium
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- von Gizycki, Rainald (author)
- Patient Advisory Council RD Connect, D-53113 Bonn, Germany;PRO RETINA Deutschland, D-53113 Bonn, Germany
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- Santoro, Michele (author)
- CNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy
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- Landais, Paul (author)
- Hop Trousseau, INSERM, RaDiCo,French Natl Programme Rare Dis Cohorts, Natl Inst Hlth & Med Res,UMR S933, F-75018 Paris, France;Montpellier Univ, Clin Res Inst, EA2415, F-34093 Montpellier, France
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- Torreri, Paola (author)
- Ist Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy
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- Carta, Claudio (author)
- Ist Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy
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- Mascalzoni, Deborah, 1973- (author)
- Uppsala universitet,Centrum för forsknings- och bioetik
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- Gainotti, Sabina (author)
- Ist Super Sanita, Off President, Bioeth Unit, I-00162 Rome, Italy
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- Lopez, Estrella (author)
- RDR, ISCIII, Inst Rare Dis Res, Madrid 28029, Spain;CIBERER, Madrid 28029, Spain
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- Ambrosini, Anna (author)
- Fdn Telethon, I-20129 Milan, Italy
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- Muller, Heimo (author)
- Med Univ Graz, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria
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- Reis, Robert (author)
- Med Univ Graz, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria
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- Bianchi, Fabrizio (author)
- CNR, Inst Clin Physiol, I-56124 Pisa, Italy;FTGM, I-56124 Pisa, Italy
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- Rubinstein, Yaffa R. (author)
- NIH, Natl Lib Med, Bethesda, MD 20892 USA
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- Lochmueller, Hanns (author)
- Univ Freiburg, Fac Med, Dept Neuropediat, D-79160 Freiburg, Germany;Univ Freiburg, Fac Med, Muscle Disorders Med Ctr, D-79160 Freiburg, Germany;BIST, CRG, CNAG, Barcelona 08028, Spain
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Mueller, Heimo (author)
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- Taruscio, Domenica (author)
- Ist Super Sanita, Natl Ctr Rare Dis, I-00162 Rome, Italy
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(creator_code:org_t)
- 2018-08-03
- 2018
- English.
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In: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 15:8
- Related links:
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https://doi.org/10.3...
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https://uu.diva-port... (primary) (Raw object)
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https://www.mdpi.com...
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Subject headings
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- Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Arbetsmedicin och miljömedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Occupational Health and Environmental Health (hsv//eng)
Keyword
- rare diseases
- patient registry
- quality
Publication and Content Type
- ref (subject category)
- for (subject category)
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- By the author/editor
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Kodra, Yllka
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Weinbach, Jerome
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Posada-de-la-Paz ...
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Coi, Alessio
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Lemonnier, S. Ly ...
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van Enckevort, D ...
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show more...
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Roos, Marco
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Jacobsen, Annika
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Cornet, Ronald
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Ahmed, S. Faisal
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Bros-Facer, Virg ...
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Popa, Veronica
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Van Meel, Mariek ...
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Renault, Daniel
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von Gizycki, Rai ...
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Santoro, Michele
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Landais, Paul
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Torreri, Paola
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Carta, Claudio
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Mascalzoni, Debo ...
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Gainotti, Sabina
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Lopez, Estrella
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Ambrosini, Anna
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Muller, Heimo
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Reis, Robert
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Bianchi, Fabrizi ...
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Rubinstein, Yaff ...
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Lochmueller, Han ...
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Mueller, Heimo
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Taruscio, Domeni ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Occupational Hea ...
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Uppsala University